research One Transgene: Two Outcomes
Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
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research Analysis of familial factors using the basic and specific (BASP) classification in Korean patients with androgenetic alopecia
Familial factors affect hair loss types in Koreans, with M type in men, L type in women, and paternal factors influencing male hair loss more.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Data from Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
research Outcomes in Clinically Relevant Patient Subgroups From the EMBRACA Study: Talazoparib vs Physician’s Choice Standard-of-Care Chemotherapy
Talazoparib is more effective than standard chemotherapy for advanced breast cancer with BRCA mutations.
research Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study
Identified genes linked to male-pattern baldness may help develop new treatments.
research The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata
The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research α-parvin is required for epidermal morphogenesis, hair follicle development and basal keratinocyte polarity
α-parvin is necessary for skin and hair growth and for the correct orientation of skin cells.
research 972 The ATP-dependent chromatin remodeler BRG1 controls epidermal keratinocytes migration during human cutaneous wound healing
BRG1 is essential for skin cells to move and heal wounds properly.
research PRAME Expression in Mammary and Extramammary Paget Disease
PRAME is often present in Paget disease and could help in diagnosis, but more research is needed.
research PINK1 deficiency rewires early immune responses in a mouse model of Parkinson’s disease triggered by intestinal infection
PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research O04 HPV8 E6 leads to Lrig1+ keratinocyte stem cell expansion
HPV8 E6 gene causes growth of certain skin stem cells.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Plakophilin 1 suppresses keratinocyte innate immune responses through DExD/H helicases
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
research Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
research DNA methylation of microRNA-365-1 induces apoptosis of hair follicle stem cells by targeting DAP3
DNA methylation of miR-365-1 causes hair follicle stem cell death by affecting DAP3.
research Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
research Association between PITX2 polymorphism and androgenetic alopecia in the Indian population
Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Data from Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
research 438 Laminin-511 is a new player in the development of psoriasis and controlled via cannabinoid receptor type 1
Laminin-511 is involved in psoriasis development and can be regulated by cannabinoid receptor type 1.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.